NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)Rat Genome Database

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Variant : CV902091 (NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)) Homo sapiens

Symbol: CV902091
Name: NM_203447.4(DOCK8):c.2444A>C (p.Asn815Thr)
RGD ID: 28875891
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV001165975]
Clinical Significance: uncertain significance
Last Evaluated: 01/13/2018
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_017007.1:g.169910A>C
NM_203447.4:c.2444A>C
LRG_196:g.169910A>C
NM_203447.3:c.2444A>C
NP_982272.2:p.Asn815Thr
NC_000009.12:g.379774A>C
NC_000009.11:g.379774A>C
NP_001177387.1:p.Asn747Thr
NP_001180465.1:p.Asn747Thr
LRG_196t1:c.2444A>C
NM_001190458.2:c.2240A>C
NM_001193536.1:c.2240A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh389379,774 - 379,774CLINVAR
GRCh379379,774 - 379,774CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AR hyperimmunoglobulin E syndrome; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV001165975 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR